Early-onset Autosomal Dominant Alzheimer Disease

Incidence and onset information

Alternative names

Early-onset Autosomal Dominant Alzheimer Disease Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease.

Researches and researchers

Doctors, researchs, and experts related to Early-onset Autosomal Dominant Alzheimer Disease extracted from public data.

Early-onset Autosomal Dominant Alzheimer Disease Experts map

Current Researchs and researchers

• — Institution: Information not provided - DE

  
  
  

  • Institution/s:
    — Institution: Information not provided - DE
  • Research area/topic::
    

    JPND - CicProt: Protection of synaptic circuits by BDNF/TrkB and arc signalling pathways in mouse models of Alzheimer's dementia (AD) and Huntington's disease (HD)



• MÜNCHEN — Dr Johannes LEVIN

  Clinical expert - Principal investigator of clinical trial - Investigator of research project
  
  

  • Institution/s:
    — LMU Klinikum der Universität München - Campus Großhadern
    — DZNE-Standort München
  • Research area/topic::
    

    Dominantly Inherited Alzheimer Network (DIAN) - DE



• BRESCIA — Dr Giovanni FRISONI

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — IRCCS Centro S.Giovanni di Dio - Fatebenefratelli
  • Research area/topic::
    

    DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration



• FIRENZE — Pr Sandro SORBI

  Responsible for diagnostic tests - Investigator of research project - Director of laboratory
  
  

  • Institution/s:
    — Dipartimento di Scienze Neurologiche e Psichiatriche, Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
  • Research area/topic::
    

    DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration



• FOGGIA — Dr Claudio BABILONI

  Investigator of research project
  
  

  • Institution/s:
    — Laboratorio di Patologia Generale, Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
  • Research area/topic::
    

    DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration



• GENOVA — Dr Massimo TABATON

  Investigator of research project
  
  

  • Institution/s:
    — IRCCS AOU San Martino - IST - DINOGMI
  • Research area/topic::
    

    Effects of Presenilin 1 mutationts on the beta-secretase cleavage of beta-amyloid precursor protein and on gene expression. The substrate of the phenotypic heterogeneity of familial Alzheimer's Disease



• MILANO — Dr Fabrizio TAGLIAVINI

  Investigator of research project
  
  

  • Institution/s:
    — Fondazione IRCCS Istituto Neurologico "Carlo Besta"
  • Research area/topic::
    

    DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration



• PADOVA — Pr Rosario RIZZUTO

  Investigator of research project
  
  

  • Institution/s:
    — Università degli Studi di Padova- Polo A.Vallisneri
  • Research area/topic::
    

    Mitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer's disease



• SAN GIOVANNI ROTONDO — Dr Maria Grazia SAVINO

  Clinical geneticist - Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Dipartimento di Patologia Clinica, IRCCS Ospedale Casa Sollievo della Sofferenza
    — Dipartimento di Scienze Mediche, IRCCS Ospedale Casa Sollievo della Sofferenza
  • Research area/topic::
    

    Innovation and potential of microarray technology in genotyping applied to personalized therapy and identification of genotypes associated with drug treatment



• TRENTO — Dr Emiliano BIASINI

  Investigator of research project
  
  

  • Institution/s:
    — Centro Interdipartimentale per la Biologia Integrata, Università di Trento
  • Research area/topic::
    

    Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases



• BARCELONA — Dr Raquel SÁNCHEZ DEL VALLE DÍAZ

  Coordinator of expert centre - Genetic counsellor - Investigator of research project
  
  

  • Institution/s:
    — Servicio de Neurología, Hospital Clínic de Barcelona
    — Neurociencia clínica y experimental, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
  • Research area/topic::
    

    Genetic dementia (autosomal dominant Alzheimer's disease and genetic prion diseases) in preclinical and early stages of the disease: cognitive performance, neuroimaging and biochemical markers



• BELLINZONA — Dr Maurizio MOLINARI

  Investigator of research project
  
  

  • Institution/s:
    — Protein Folding and Quality Control - Institute for Research in Biomedicine, Istituto di Ricerca in Biomedicina
  • Research area/topic::
    

    Investigating cellular mechanisms regulating protein folding and quality control to intervene in conformational diseases



• CAMBRIDGE — Pr James FAWCETT

  Coordinator of research network
  
  

  • Institution/s:
    — University of Cambridge, John van Geest Centre for Brain Repair
  • Research area/topic::
    

    EUNEURONE: European Consortium for Research in Neurodegenerative Diseases

Early-onset Autosomal Dominant Alzheimer Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...) View the complete list with 612 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Close Specificity 1 % Genes 29 %
ADmark® APP DNA Sequencing/Duplication Test. By Athena Diagnostics Inc (United States). APP Specificity 100 % Genes 15 %
ADmark® Early Onset Alzheimer's Evaluation. By Athena Diagnostics Inc (United States). APP, PSEN1, PSEN2 Specificity 100 % Genes 43 %
Dementia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...) View the complete list with 1 more genes Panel complete gene list SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1, PSEN2 Close Specificity 24 % Genes 72 %
APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). APOE, APP, PSEN1, PSEN2 Specificity 75 % Genes 43 %
APP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). APP Specificity 100 % Genes 15 %
, APP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). APP Specificity 100 % Genes 15 %
APP. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). APP Specificity 100 % Genes 15 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SWEENEY-COX SYNDROME; SWCOS HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO PREECLAMPSIA/ECLAMPSIA 1; PEE1